764950001: Cryptorchidism, arachnodactyly, intellectual disability syndrome (disorder)

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

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

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Cryptorchidism, arachnodactyly, intellectual disability syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Cryptorchidism, arachnodactyly, intellectual disability syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Cryptorchidism, arachnodactyly, 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\Cryptorchidism, arachnodactyly, 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\Cryptorchidism, arachnodactyly, 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\Cryptorchidism, arachnodactyly, 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\Cryptorchidism, arachnodactyly, intellectual disability syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Cryptorchidism, arachnodactyly, 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\Cryptorchidism, arachnodactyly, 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\Cryptorchidism, arachnodactyly, 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:

Id Description Lang Type Status Case? Module

3655725014 Cryptorchidism, arachnodactyly, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3655727018 Cryptorchidism, arachnodactyly, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3655729015 Van Benthem Driessen Hanveld syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3655728011 A rare multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3657278013 A rare multiple congenital anomalies syndrome characterised by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalised contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

10738201000172117 syndrome de Van Benthem-Driessen-Hanveld fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

10738211000172119 syndrome de cryptorchidie, arachnodactylie et déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4099861000172118 syndroom van Van Benthem-Driessen-Haneveld nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4099871000172110 Van Benthem-Driessen-Haneveld-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4099881000172113 syndroom van niet-ingedaalde testis, spinnenkopvingers en cognitieve beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4099891000172111 syndroom van cryptorchisme, arachnodactylie en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cryptorchidism, arachnodactyly, intellectual disability syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Cryptorchidism, arachnodactyly, intellectual disability syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Cryptorchidism, arachnodactyly, intellectual disability syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
Cryptorchidism, arachnodactyly, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Cryptorchidism, arachnodactyly, intellectual disability syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Cryptorchidism, arachnodactyly, intellectual disability syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Cryptorchidism, arachnodactyly, intellectual disability syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cryptorchidism, arachnodactyly, intellectual disability syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Cryptorchidism, arachnodactyly, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Cryptorchidism, arachnodactyly, intellectual disability syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Cryptorchidism, arachnodactyly, intellectual disability syndrome	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
3655725014	Cryptorchidism, arachnodactyly, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655727018	Cryptorchidism, arachnodactyly, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655729015	Van Benthem Driessen Hanveld syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3655728011	A rare multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3657278013	A rare multiple congenital anomalies syndrome characterised by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalised contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10738201000172117	syndrome de Van Benthem-Driessen-Hanveld	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10738211000172119	syndrome de cryptorchidie, arachnodactylie et déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4099861000172118	syndroom van Van Benthem-Driessen-Haneveld	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4099871000172110	Van Benthem-Driessen-Haneveld-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4099881000172113	syndroom van niet-ingedaalde testis, spinnenkopvingers en cognitieve beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4099891000172111	syndroom van cryptorchisme, arachnodactylie en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)