1208344000: Fryns Smeets Thiry syndrome (disorder)

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

\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\A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Severe intellectual disability (disorder)\A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Severe intellectual disability (disorder)\A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Severe intellectual disability (disorder)\A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability (disorder)\A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.

\Disease\Genetic disease\A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.
\Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\Severe intellectual disability (disorder)\A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5399812018 A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399813011 A rare, genetic, syndromic intellectual disability disorder characterised by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4963748011 Fryns Smeets Thiry syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4963749015 Fryns Smeets Thiry syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.	Is a	Severe intellectual disability (disorder)	true	Inferred relationship	Some
A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.	Is a	Genetic disease	true	Inferred relationship	Some
A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.	Occurrence	Congenital	true	Inferred relationship	Some	1
A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.	Finding site	Face structure	true	Inferred relationship	Some	1
A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	2
A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.	Has interpretation	Impaired	true	Inferred relationship	Some	2
A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.	Interprets	Intellectual ability	true	Inferred relationship	Some	3
A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.	Has interpretation	Impaired	true	Inferred relationship	Some	3

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Id	Description	Lang	Type	Status	Case?	Module
5399812018	A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399813011	A rare, genetic, syndromic intellectual disability disorder characterised by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4963748011	Fryns Smeets Thiry syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4963749015	Fryns Smeets Thiry syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core