717977003: Lissencephaly syndrome Norman Roberts type (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type (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\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type (disorder)

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\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 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Lissencephaly syndrome Norman Roberts type (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\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type (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\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type (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\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type (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\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type (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\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Lissencephaly syndrome Norman Roberts type (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 abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Developmental disorder\Congenital malformation\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 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly syndrome Norman Roberts type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Lissencephaly syndrome Norman Roberts type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Only initial character case insensitive (core metadata concept) SNOMED CT core

3310761014 Lissencephaly syndrome Norman Roberts type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3310762019 Microlissencephaly type A en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5401661018 Lissencephaly syndrome, Norman-Roberts type is characterized by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401662013 Lissencephaly syndrome, Norman-Roberts type is characterised by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lissencephaly syndrome Norman Roberts type (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Lissencephaly syndrome Norman Roberts type (disorder)	Is a	Type 1 lissencephaly	true	Inferred relationship	Some
Lissencephaly syndrome Norman Roberts type (disorder)	Is a	Congenital abnormality of skull and face bones	true	Inferred relationship	Some
Lissencephaly syndrome Norman Roberts type (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Lissencephaly syndrome Norman Roberts type (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Lissencephaly syndrome Norman Roberts type (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Lissencephaly syndrome Norman Roberts type (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	5
Lissencephaly syndrome Norman Roberts type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Lissencephaly syndrome Norman Roberts type (disorder)	Finding site	Bone structure of head	false	Inferred relationship	Some	5
Lissencephaly syndrome Norman Roberts type (disorder)	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Lissencephaly syndrome Norman Roberts type (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	3
Lissencephaly syndrome Norman Roberts type (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	4
Lissencephaly syndrome Norman Roberts type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Lissencephaly syndrome Norman Roberts type (disorder)	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	4
Lissencephaly syndrome Norman Roberts type (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	2
Lissencephaly syndrome Norman Roberts type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Lissencephaly syndrome Norman Roberts type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Lissencephaly syndrome Norman Roberts type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Lissencephaly syndrome Norman Roberts type (disorder)	Finding site	Bone structure of head	true	Inferred relationship	Some	1
Lissencephaly syndrome Norman Roberts type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Lissencephaly syndrome Norman Roberts type (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Lissencephaly syndrome Norman Roberts type (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Lissencephaly syndrome Norman Roberts type (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3310760010	Lissencephaly syndrome Norman Roberts type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3310761014	Lissencephaly syndrome Norman Roberts type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3310762019	Microlissencephaly type A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5401661018	Lissencephaly syndrome, Norman-Roberts type is characterized by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401662013	Lissencephaly syndrome, Norman-Roberts type is characterised by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core