1156584007: X-linked intellectual disability hypotonic face syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\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\X-linked intellectual disability hypotonic face syndrome

\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability hypotonic face syndrome
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability hypotonic face syndrome

\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\X-linked intellectual disability hypotonic face syndrome
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability hypotonic face syndrome
\Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability hypotonic face syndrome
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability hypotonic face syndrome
\Disease\trouble mental\troubles mentaux du développement\Intellectual disability\X-linked intellectual disability hypotonic face syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability hypotonic face syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability hypotonic face syndrome
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\X-linked intellectual disability hypotonic face syndrome
\Disease\trouble du développement\Developmental hereditary disorder\X-linked intellectual disability hypotonic face syndrome
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability hypotonic face syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability hypotonic face syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked intellectual disability hypotonic face syndrome	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
X-linked intellectual disability hypotonic face syndrome	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some
X-linked intellectual disability hypotonic face syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked intellectual disability hypotonic face syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability hypotonic face syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
X-linked intellectual disability hypotonic face syndrome	localisation d'une constatation (attribut)	face	true	Inferred relationship	Some	1
X-linked intellectual disability hypotonic face syndrome	est un(e) (attribut)	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
X-linked intellectual disability hypotonic face syndrome	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
X-linked intellectual disability hypotonic face syndrome	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4575298010	X-linked intellectual disability hypotonic face syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4575299019	X-linked intellectual disability hypotonic face syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4575308015	Carpenter Waziri syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4575311019	Holmes Gang syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4575312014	Smith Fineman Myers syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core