1162839003: XK aprosencephaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\XK aprosencephaly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\XK aprosencephaly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\XK aprosencephaly syndrome
\Disease\Disorder of embryonic structure\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\XK aprosencephaly syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\XK aprosencephaly syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Abnormality of neurogenesis\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\XK aprosencephaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Abnormality of neurogenesis\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\XK aprosencephaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\XK aprosencephaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Abnormality of neurogenesis\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\XK aprosencephaly syndrome

Status: current, Primitive. 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 Case sensitive SNOMED CT core

4591720010 XK aprosencephaly syndrome en Synonym Active Case sensitive SNOMED CT core

4591721014 XK syndrome en Synonym Active Case sensitive SNOMED CT core

4591722019 Garcia Lurie syndrome en Synonym Active Case sensitive SNOMED CT core

4591723012 A rare syndromic type of cerebral malformation with characteristics of aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (such as ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (such as hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
XK aprosencephaly syndrome	Is a	Aprosencephaly	true	Inferred relationship	Some
XK aprosencephaly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
XK aprosencephaly syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
XK aprosencephaly syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
XK aprosencephaly syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
XK aprosencephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
XK aprosencephaly syndrome	Finding site	Brain structure	false	Inferred relationship	Some	1
XK aprosencephaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
XK aprosencephaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
XK aprosencephaly syndrome	Finding site	Structure of diencephalon	true	Inferred relationship	Some	1
XK aprosencephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
XK aprosencephaly syndrome	Finding site	Structure of telencephalon	true	Inferred relationship	Some	2
XK aprosencephaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
XK aprosencephaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4591719016	XK aprosencephaly syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
4591720010	XK aprosencephaly syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4591721014	XK syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4591722019	Garcia Lurie syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4591723012	A rare syndromic type of cerebral malformation with characteristics of aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (such as ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (such as hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies.	en	Definition	Active	Case sensitive	SNOMED CT core