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Aplasia cutis with myopia syndrome
Aplasia or hypoplasia with immunodeficiency
Infants
Pharyngeal pouch syndrome Thymic alymphoplasia
Primary
X-linked cone dysfunction syndrome with myopia

Translation of "Aplasia cutis with myopia syndrome " (English → French) :

TERMINOLOGY
see also In-Context Translations below
Aplasia cutis with myopia syndrome

syndrome d'aplasie cutanée-myopie
SNOMEDCT-BE (disorder) / 720499004
SNOMEDCT-BE (disorder) / 720499004


An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to in

aplasie cutanée congénitale autosomique récessive
SNOMEDCT-BE (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to / 720500008
SNOMEDCT-BE (disorder) / 720500008


An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to

syndrome d'aplasie cutanée congénitale-lymphangiectasie intestinale
SNOMEDCT-BE (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to / 720500008
SNOMEDCT-BE (disorder) / 720500008


Aplasia cutis congenita, nevus sebaceous syndrome

syndrome d'aplasie cutanée congénitale-naevus sébacé
SNOMEDCT-BE (disorder) / 774209001
SNOMEDCT-BE (disorder) / 774209001


A rare multiple congenital anomalies syndrome with characteristics of mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlax

syndrome cranio-facio-fronto-digital
SNOMEDCT-BE (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlax / 763320005
SNOMEDCT-BE (disorder) / 763320005


X-linked cone dysfunction syndrome with myopia

maladie des yeux type Bornholm
SNOMEDCT-BE (disorder) / 718718009
SNOMEDCT-BE (disorder) / 718718009


Nail-patella syndrome is a rare hereditary patellar dysostosis with characteristics of nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.

syndrome nail-patella
SNOMEDCT-BE (disorder) / 22199006
SNOMEDCT-BE (disorder) / 22199006


Pharyngeal pouch syndrome Thymic:alymphoplasia | aplasia or hypoplasia with immunodeficiency

Alymphoplasie thymique Aplasie ou hypoplasie thymique avec déficit immunitaire Syndrome de la poche branchiale
WORLD HEALTH ORGANIZATION ICD-10: D82.1
WORLD HEALTH ORGANIZATION ICD-10: D82.1


Aplasia, (pure) red cell (of):congenital | infants | primary | Blackfan-Diamond syndrome Familial hypoplastic anaemia Fanconi's anaemia Pancytopenia with malformations

Anémie (de):Fanconi | hypoplasique familiale | Erythroblastopénie (pure) (du):congénitale | nourrisson | primaire | Pancytopénie avec malformations Syndrome de Blackfan-Diamond
WORLD HEALTH ORGANIZATION ICD-10: D61.0
WORLD HEALTH ORGANIZATION ICD-10: D61.0
IN-CONTEXT TRANSLATIONS


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'Aplasia cutis with myopia syndrome'

Date index:2021-05-09 -

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