720502000: Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)

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

\Deformity (finding)\Deformity of limb (finding)\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Deformity (finding)\Congenital deformity\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)

\Finding of limb structure\Deformity of limb (finding)\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)

\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\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)

\Disease\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Arachnodactyly\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3321048014 Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3321049018 Arachnodactyly and intellectual disability with facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3321050018 De Die, Smulders, Vles, Fryns syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3321052014 This syndrome has characteristics of moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes and hypoplastic external genitalia. It has been described in three patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3898521000052114 syndrom med araknodaktyli, intellektuell funktionsnedsättning och ansiktsmissbildning sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Is a	Arachnodactyly	true	Inferred relationship	Some
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Is a	mental retardation	false	Inferred relationship	Some
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	2
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Finding site	Digit structure	false	Inferred relationship	Some	2
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	3
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	1
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	1
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Associated morphology	Abnormally long and slender growth	true	Inferred relationship	Some	1

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
3321048014	Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321049018	Arachnodactyly and intellectual disability with facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321050018	De Die, Smulders, Vles, Fryns syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321052014	This syndrome has characteristics of moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes and hypoplastic external genitalia. It has been described in three patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3898521000052114	syndrom med araknodaktyli, intellektuell funktionsnedsättning och ansiktsmissbildning	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)