719812008: X-gebonden syndroom van verstandelijke beperking en plagiocefalie (aandoening)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3317998016	X-linked intellectual disability with plagiocephaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3317999012	Hyde Forster McCarthy Berry syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6956951000146115	X-gebonden syndroom van mentale retardatie en plagiocefalie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6956971000146111	syndroom van Hyde Forster-McCarthy-Berry	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7495371000146110	X-gebonden syndroom van verstandelijke beperking en plagiocefalie (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7719141000146112	X-gebonden syndroom van verstandelijke beperking en plagiocefalie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7797281000146118	X-gebonden syndroom van verstandelijke handicap en plagiocefalie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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