719156006: X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)

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

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
\Disease\Degenerative disorder\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3315189016 X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3315190013 X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3315191012 X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401970018 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401971019 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalised hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinaemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum. 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
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Is a	X-linked hypogammaglobulinemia	false	Inferred relationship	Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Has definitional manifestation	Neutropenia	false	Inferred relationship	Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Has interpretation	Below reference range	false	Inferred relationship	Some	1
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Interprets	Neutrophil count	false	Inferred relationship	Some	1
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Some	3
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Is a	Chronic nervous system disorder (disorder)	true	Inferred relationship	Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Is a	Chronic mental disorder	false	Inferred relationship	Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Is a	Degenerative disorder	true	Inferred relationship	Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5

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
3315189016	X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315190013	X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315191012	X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401970018	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401971019	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalised hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinaemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core