1162839003: XK aprosencephaly syndrome (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\XK aprosencephaly syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\XK aprosencephaly syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\XK aprosencephaly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\XK aprosencephaly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Abnormality of neurogenesis\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome (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\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\XK aprosencephaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\XK aprosencephaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Abnormality of neurogenesis\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly 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\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly 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\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly 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\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\XK aprosencephaly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\XK aprosencephaly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Abnormality of neurogenesis\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4591719016 XK aprosencephaly syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4591720010 XK aprosencephaly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4591721014 XK syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4591722019 Garcia Lurie syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399280014 A rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399281013 A rare syndromic type of cerebral malformation characterised by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance. 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
XK aprosencephaly syndrome (disorder)	Is a	Aprosencephaly	true	Inferred relationship	Some
XK aprosencephaly syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
XK aprosencephaly syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
XK aprosencephaly syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
XK aprosencephaly syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
XK aprosencephaly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
XK aprosencephaly syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	1
XK aprosencephaly syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
XK aprosencephaly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
XK aprosencephaly syndrome (disorder)	Finding site	Structure of diencephalon	true	Inferred relationship	Some	1
XK aprosencephaly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
XK aprosencephaly syndrome (disorder)	Finding site	Structure of telencephalon (body structure)	true	Inferred relationship	Some	2
XK aprosencephaly syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
XK aprosencephaly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

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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
4591719016	XK aprosencephaly syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4591720010	XK aprosencephaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4591721014	XK syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4591722019	Garcia Lurie syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399280014	A rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399281013	A rare syndromic type of cerebral malformation characterised by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core