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

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of the hand\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of the hand\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of the hand\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Finding of limb structure\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 of upper limb\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of the hand\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of the hand\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of bone in hand\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of the hand\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (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)\Congenital anomaly of central nervous system\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\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 (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)

\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)

\Musculoskeletal 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\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia 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\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia 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 anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Hereditary disorder of nervous system\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\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 body system\Hereditary disorder by system\Hereditary disorder of nervous system\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\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 of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\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 of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\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\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\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\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 extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of the hand\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of the hand\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of the hand\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 (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Congenital disease (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\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of the hand\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone (disorder)\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
\Disease\Developmental 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\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\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of the hand\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

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

3916431000052116 syndrom med lissencefali typ 3 och dysplasi i metakarpalben sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Is a	Congenital anomaly of metacarpal bone (disorder)	true	Inferred relationship	Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Is a	Lissencephaly	true	Inferred relationship	Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Is a	Chondrodysplasia punctata	true	Inferred relationship	Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	6
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	6
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	5
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Finding site	Metacarpal bone structure (body structure)	false	Inferred relationship	Some	5
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Associated morphology	kongenital anomali	false	Inferred relationship	Some	4
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	4
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	2
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Finding site	Metacarpal bone structure (body structure)	true	Inferred relationship	Some	1
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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
3916431000052116	syndrom med lissencefali typ 3 och dysplasi i metakarpalben	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)