721903007: Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
\Disease\Congenital disease\Congenital immunodeficiency disease\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3326807011 Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3326808018 Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3326809014 Microcephaly, hypogammaglobulinaemia, abnormal immunity syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3326810016 Say Barber Miller syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Is a	Microcephalus	false	Inferred relationship	Existential restriction modifier
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Existential restriction modifier
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Is a	Primary immune deficiency disorder	true	Inferred relationship	Existential restriction modifier
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Is a	Hereditary disorder of immune system	false	Inferred relationship	Existential restriction modifier
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier	3
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	3
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	4
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	2
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	2
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Existential restriction modifier	3
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	2
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	4
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3326807011	Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3326808018	Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3326809014	Microcephaly, hypogammaglobulinaemia, abnormal immunity syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3326810016	Say Barber Miller syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module