1172697000: X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability

\Finding of head and neck region\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 female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
\Disease\Developmental disorder\Developmental delay\Global developmental delay\X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4635434016 X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4635435015 X-linked facial dysmorphism, short stature, choanal atresia, intellectual disability syndrome limited to females en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4635436019 X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4635437011 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability and dysmorphic facial features including facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, low-set posteriorly rotated dysplastic ears exclusively affecting females. Additional reported manifestations include short stature, choanal atresia, scoliosis, congenital ocular, dental, cardiac and urogenital anomalies, along with hypotonia, seizures and structural brain abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

7520341000172116 tot vrouwen beperkt X-gebonden syndroom van faciale dysmorfie, korte gestalte, choanale atresie en verstandelijke beperking nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7520351000172119 tot vrouwen beperkt X-gebonden syndroom van faciale dysmorfie, korte gestalte, choanale atresie en mentale retardatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7520361000172117 tot vrouwen beperkt X-gebonden syndroom van faciale dysmorfie, korte gestalte, choanenatresie en verstandelijke handicap nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Some
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	Is a	Global developmental delay	true	Inferred relationship	Some
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	Finding site	Face structure	true	Inferred relationship	Some	1
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	Has interpretation	Impaired	true	Inferred relationship	Some	2
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	Has interpretation	Impaired	true	Inferred relationship	Some	3

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
4635434016	X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4635435015	X-linked facial dysmorphism, short stature, choanal atresia, intellectual disability syndrome limited to females	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4635436019	X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4635437011	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability and dysmorphic facial features including facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, low-set posteriorly rotated dysplastic ears exclusively affecting females. Additional reported manifestations include short stature, choanal atresia, scoliosis, congenital ocular, dental, cardiac and urogenital anomalies, along with hypotonia, seizures and structural brain abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7520341000172116	tot vrouwen beperkt X-gebonden syndroom van faciale dysmorfie, korte gestalte, choanale atresie en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7520351000172119	tot vrouwen beperkt X-gebonden syndroom van faciale dysmorfie, korte gestalte, choanale atresie en mentale retardatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7520361000172117	tot vrouwen beperkt X-gebonden syndroom van faciale dysmorfie, korte gestalte, choanenatresie en verstandelijke handicap	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)