764950001: Cryptorchidism, arachnodactyly, intellectual disability 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\Cryptorchidism, arachnodactyly, intellectual disability syndrome
• \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\Cryptorchidism, arachnodactyly, intellectual disability syndrome
• \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\Cryptorchidism, arachnodactyly, intellectual disability syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\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 foetus and/or newborn\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\Disorder of foetus and/or newborn\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\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\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
5404418012	Cryptorchidism-arachnodactyly-intellectual disability syndrome is 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 (i.e. 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
5404419016	Cryptorchidism-arachnodactyly-intellectual disability syndrome is 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 (i.e. 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

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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