718720007: Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Finding of bone of upper limb\Finding of bone in hand\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Finding of bone in hand\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Finding of bone of upper limb\Finding of bone in hand\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia 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
3313331017	Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313332012	Lissencephaly type 3 metacarpal bone dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401837010	A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401838017	A rare syndromic form of lissencephaly characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3313331017	Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313331017	Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313332012	Lissencephaly type 3 metacarpal bone dysplasia syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313332012	Lissencephaly type 3 metacarpal bone dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313333019	This syndrome has characteristics of severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphism and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401837010	A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401838017	A rare syndromic form of lissencephaly characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3451421001000114	Lissenzephalie Typ III - metakarpale Knochendysplasie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6396591000241116	syndrome de lissencéphalie de type 3 et dysplasie métacarpienne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6396591000241116	syndrome de lissencéphalie de type 3 et dysplasie métacarpienne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3451421001000114	Lissenzephalie Typ III - metakarpale Knochendysplasie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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