717977003: Lissencephaly syndrome Norman Roberts type (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type

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

\Finding of brain\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type

\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Lissencephaly syndrome Norman Roberts type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Lissencephaly syndrome Norman Roberts type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lissencephaly syndrome Norman Roberts type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lissencephaly syndrome Norman Roberts type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lissencephaly syndrome Norman Roberts type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Lissencephaly syndrome Norman Roberts type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lissencephaly syndrome Norman Roberts type
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Lissencephaly syndrome Norman Roberts type
\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\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type
\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\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Lissencephaly syndrome Norman Roberts type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type
\Disease\Developmental disorder\Developmental hereditary disorder\Lissencephaly syndrome Norman Roberts type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3310760010 Lissencephaly syndrome Norman Roberts type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3310761014 Lissencephaly syndrome Norman Roberts type en Synonym Active Initial character case insensitive SNOMED CT core

3310762019 Microlissencephaly type A en Synonym Active Initial character case insensitive SNOMED CT core

3310763012 Lissencephaly syndrome, Norman-Roberts type is the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. Severe intellectual deficit, spasticity and epilepsy are also present. Mutations in the RELN gene (7q22) have been identified in some patients. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lissencephaly syndrome Norman Roberts type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Lissencephaly syndrome Norman Roberts type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Lissencephaly syndrome Norman Roberts type	Finding site	Bone structure of head	true	Inferred relationship	Some	1
Lissencephaly syndrome Norman Roberts type	Occurrence	Congenital	true	Inferred relationship	Some	1
Lissencephaly syndrome Norman Roberts type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Lissencephaly syndrome Norman Roberts type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Lissencephaly syndrome Norman Roberts type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Lissencephaly syndrome Norman Roberts type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Lissencephaly syndrome Norman Roberts type	Is a	Type 1 lissencephaly	true	Inferred relationship	Some
Lissencephaly syndrome Norman Roberts type	Is a	Congenital abnormality of skull and face bones	true	Inferred relationship	Some
Lissencephaly syndrome Norman Roberts type	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Lissencephaly syndrome Norman Roberts type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Lissencephaly syndrome Norman Roberts type	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Lissencephaly syndrome Norman Roberts type	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Lissencephaly syndrome Norman Roberts type	Occurrence	Congenital	false	Inferred relationship	Some	5
Lissencephaly syndrome Norman Roberts type	Finding site	Bone structure of head	false	Inferred relationship	Some	5
Lissencephaly syndrome Norman Roberts type	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Lissencephaly syndrome Norman Roberts type	Finding site	Brain structure	false	Inferred relationship	Some	3
Lissencephaly syndrome Norman Roberts type	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Lissencephaly syndrome Norman Roberts type	Occurrence	Congenital	false	Inferred relationship	Some	4
Lissencephaly syndrome Norman Roberts type	Finding site	Structure of central nervous system	false	Inferred relationship	Some	4
Lissencephaly syndrome Norman Roberts type	Finding site	Brain structure	true	Inferred relationship	Some	2
Lissencephaly syndrome Norman Roberts type	Occurrence	Congenital	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
3310760010	Lissencephaly syndrome Norman Roberts type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3310761014	Lissencephaly syndrome Norman Roberts type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3310762019	Microlissencephaly type A	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3310763012	Lissencephaly syndrome, Norman-Roberts type is the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. Severe intellectual deficit, spasticity and epilepsy are also present. Mutations in the RELN gene (7q22) have been identified in some patients. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core