719812008: X-linked intellectual disability with plagiocephaly syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Congenital deformity\X-linked intellectual disability with plagiocephaly syndrome
• \Deformity\Deformity of bone\Plagiocephaly\X-linked intellectual disability with plagiocephaly syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked intellectual disability with plagiocephaly 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 with plagiocephaly syndrome
• \Skull finding\Disorder of skull\...
• \Congenital anomaly of skull\Congenital abnormality of skull shape\X-linked intellectual disability with plagiocephaly syndrome
• \Plagiocephaly\X-linked intellectual disability with plagiocephaly syndrome
• \Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\X-linked intellectual disability with plagiocephaly syndrome
• \Disorder of head\Disorder of skull\Plagiocephaly\X-linked intellectual disability with plagiocephaly syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with plagiocephaly 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 with plagiocephaly syndrome
• \Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\X-linked intellectual disability with plagiocephaly syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked intellectual disability with plagiocephaly syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability with plagiocephaly syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability with plagiocephaly syndrome
• \Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\X-linked intellectual disability with plagiocephaly syndrome
• \Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Plagiocephaly\X-linked intellectual disability with plagiocephaly syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\X-linked intellectual disability with plagiocephaly syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Deformity of bone\Plagiocephaly\X-linked intellectual disability with plagiocephaly syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\X-linked intellectual disability with plagiocephaly syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Plagiocephaly\X-linked intellectual disability with plagiocephaly syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\X-linked intellectual disability with plagiocephaly syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\X-linked intellectual disability with plagiocephaly syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Plagiocephaly\X-linked intellectual disability with plagiocephaly syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\X-linked intellectual disability with plagiocephaly syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Plagiocephaly\X-linked intellectual disability with plagiocephaly syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\X-linked intellectual disability with plagiocephaly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability with plagiocephaly syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability with plagiocephaly syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability with plagiocephaly syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability with plagiocephaly syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\X-linked intellectual disability with plagiocephaly syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\X-linked intellectual disability with plagiocephaly syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Plagiocephaly\X-linked intellectual disability with plagiocephaly syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\X-linked intellectual disability with plagiocephaly syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Plagiocephaly\X-linked intellectual disability with plagiocephaly syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\X-linked intellectual disability with plagiocephaly syndrome
• \Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\X-linked intellectual disability with plagiocephaly syndrome
• \Disease\Disorder of head\Disorder of skull\Plagiocephaly\X-linked intellectual disability with plagiocephaly 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 with plagiocephaly 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 with plagiocephaly syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\X-linked intellectual disability with plagiocephaly 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 with plagiocephaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\X-linked intellectual disability with plagiocephaly 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 with plagiocephaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\X-linked intellectual disability with plagiocephaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\X-linked intellectual disability with plagiocephaly syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability with plagiocephaly syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\X-linked intellectual disability with plagiocephaly syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability with plagiocephaly 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 with plagiocephaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\X-linked intellectual disability with plagiocephaly 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 with plagiocephaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\X-linked intellectual disability with plagiocephaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\X-linked intellectual disability with plagiocephaly syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3317997014	X-linked intellectual disability with plagiocephaly syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3317998016	X-linked intellectual disability with plagiocephaly syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3317999012	Hyde Forster McCarthy Berry syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3318000018	This syndrome has characteristics of severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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