1237420004: X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome

Status: current, Primitive. Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5099080015	X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5099081016	X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
5099082011	A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, growth retardation, hearing impairment, characteristic facial dysmorphology (including prominent supraorbital ridges, downslanting palpebral fissures, deep-set eyes, long face, sagging cheeks, anteverted nares, and pointed chin), generalised hypotonia, joint hypermobility, gluteal crease with sacral caudal remnant and sacral dimple, and variable neurological features. Various ophthalmic, cutaneous, musculoskeletal, gastrointestinal and cardiovascular anomalies have also been described. The disorder is caused by pathogenic mutations in the TAF1 gene (Xq13.1). The pattern of inheritance is X-linked.	en	Definition	Active	Case sensitive	SNOMED CT core
5099083018	A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, growth retardation, hearing impairment, characteristic facial dysmorphology (including prominent supraorbital ridges, downslanting palpebral fissures, deep-set eyes, long face, sagging cheeks, anteverted nares, and pointed chin), generalized hypotonia, joint hypermobility, gluteal crease with sacral caudal remnant and sacral dimple, and variable neurological features. Various ophthalmic, cutaneous, musculoskeletal, gastrointestinal and cardiovascular anomalies have also been described. The disorder is caused by pathogenic mutations in the TAF1 gene (Xq13.1). The pattern of inheritance is X-linked.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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