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

SNOMED CT Concept\Clinical finding\...

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

\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome

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

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

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

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Finding of bone in hand\Congenital anomaly of metacarpal bone\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\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
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone\Lissencephaly type 3 metacarpal bone dysplasia syndrome

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

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 SNOMED CT core module

3313332012 Lissencephaly type 3 metacarpal bone dysplasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

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	SNOMED CT core module
3313332012	Lissencephaly type 3 metacarpal bone dysplasia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module