765758008: nanisme microcéphalique primordial type Montréal (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Primordial dwarfism\Microcephalic primordial dwarfism Montreal type
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism Montreal type
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Montreal type
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Montreal type
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism Montreal type
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Montreal type
• \constatation générale à propos de l'observation du patient\Body measurement finding\...
• \Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Primordial dwarfism\Microcephalic primordial dwarfism Montreal type
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism Montreal type
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Montreal type
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism Montreal type
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Montreal type
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Microcephalic primordial dwarfism Montreal type
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Montreal type
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism Montreal type
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Montreal type
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Microcephalic primordial dwarfism Montreal type
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Montreal type
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism Montreal type
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Montreal type
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Primordial dwarfism\Microcephalic primordial dwarfism Montreal type

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3659604013	Bird-headed dwarfism Montreal type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3659605014	Microcephalic primordial dwarfism Montreal type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3659607018	Microcephalic primordial dwarfism Montreal type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
768001000241118	nanisme microcéphalique primordial type Montréal (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
926801000172115	nanisme microcéphalique primordial type Montréal	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
954811000172113	nanisme à tête d'oiseau type Montréal	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3659606010	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3777360016	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature greying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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