763665007: Craniodigital syndrome and intellectual disability syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Craniodigital syndrome and intellectual disability syndrome

\Finding of limb structure\Disorder of limb (disorder)\...

\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Craniodigital syndrome and intellectual disability syndrome

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Craniodigital syndrome and intellectual disability syndrome
\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniodigital syndrome and intellectual disability syndrome

\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\Craniodigital syndrome and intellectual disability syndrome

\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\Craniodigital syndrome and intellectual disability syndrome
\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\Craniodigital syndrome and intellectual disability syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Craniodigital syndrome and intellectual disability syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Craniodigital syndrome and intellectual disability syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Craniodigital syndrome and intellectual disability syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Craniodigital syndrome and intellectual disability syndrome
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Craniodigital syndrome and intellectual disability syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Craniodigital syndrome and intellectual disability syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniodigital syndrome and intellectual disability syndrome
\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\Craniodigital syndrome and intellectual disability syndrome
\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\Craniodigital syndrome and intellectual disability syndrome
\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\Craniodigital syndrome and intellectual disability syndrome
\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\Craniodigital syndrome and intellectual disability syndrome
\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\Craniodigital syndrome and intellectual disability syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Craniodigital syndrome and intellectual disability syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniodigital syndrome and intellectual disability syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Craniodigital syndrome and intellectual disability syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Craniodigital syndrome and intellectual disability syndrome
\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\Craniodigital syndrome and intellectual disability syndrome
\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\Craniodigital syndrome and intellectual disability syndrome
\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\Craniodigital syndrome and intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Craniodigital syndrome and intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniodigital syndrome and intellectual disability syndrome

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniodigital syndrome and intellectual disability syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Craniodigital syndrome and intellectual disability syndrome	Is a	Hereditary disease	false	Inferred relationship	Some
Craniodigital syndrome and intellectual disability syndrome	Is a	Syndactyly (disorder)	true	Inferred relationship	Some
Craniodigital syndrome and intellectual disability syndrome	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	2
Craniodigital syndrome and intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Craniodigital syndrome and intellectual disability syndrome	Finding site	Digit structure	true	Inferred relationship	Some	2
Craniodigital syndrome and intellectual disability syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Craniodigital syndrome and intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Craniodigital syndrome and intellectual disability syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
Craniodigital syndrome and intellectual disability syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Craniodigital syndrome and intellectual disability syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Craniodigital syndrome and intellectual disability syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Craniodigital syndrome and intellectual disability syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Craniodigital syndrome and intellectual disability syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Craniodigital syndrome and intellectual disability syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Craniodigital syndrome and intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Craniodigital syndrome and intellectual disability syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Craniodigital syndrome and intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4

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
3643215011	Scott craniodigital syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643216012	Scott Bryant Graham syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643217015	Craniodigital syndrome and intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643218013	Craniodigital syndrome and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643219017	Syndrome with manifestations of syndactyly of the fingers and toes, characteristic facies (startled facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit. Less than 10 cases have been described in the literature so far. Abnormal dermatoglyphic patterns, growth retardation and brachycephaly have also been reported. Transmission appears to be autosomal or X-linked recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10750141000172110	syndrome craniodigital et déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10750151000172112	syndrome de Scott-Bryant-Graham	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10750161000172114	syndrome craniodigital de Scott	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4181741000172116	craniodigitaal syndroom van Scott	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4181751000172119	syndroom van Scott-Bryant-Graham	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4181761000172117	craniodigitaal syndroom met verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4181771000172114	craniodigitaal syndroom met mentale retardatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4181781000172112	craniodigitaal syndroom met verstandelijke handicap	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)