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

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of upper limb\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 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\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 limb\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 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 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\Encephalopathy\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\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome

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

\Finding of brain\Encephalopathy\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\Encephalopathy\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\Neurological disorder\Hereditary disorder of nervous system\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Disease\Disorder of body system\Neurological 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
\Disease\Disorder of body system\Neurological disorder\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\Neurological disorder\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\Neurological disorder\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\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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 limb\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 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 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\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Lissencephaly type 3 metacarpal bone dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\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 anomaly\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, Primitive. 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 Case insensitive SNOMED CT core

3313332012 Lissencephaly type 3 metacarpal bone dysplasia syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3313331017	Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3313332012	Lissencephaly type 3 metacarpal bone dysplasia syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core