770625006: Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Disorder of the central nervous system\...

\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome

\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome

\Disorder of visual pathways\Disorder of optic nerve\...

\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome

\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome

\Optic atrophy\Congenital atrophy of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Combined immunodeficiency with faciooculoskeletal anomalies syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Combined immunodeficiency with faciooculoskeletal anomalies syndrome

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome

\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome

\Disorder of visual pathways\Disorder of optic nerve\...

\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome

\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome

\Optic atrophy\Congenital atrophy of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of immune function\Hereditary disorder of immune system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Degenerative disorder\Congenital degeneration of nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of optic nerve\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Congenital disease\Congenital atrophy of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Congenital disease\Congenital immunodeficiency disease\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Combined immunodeficiency with faciooculoskeletal anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3701682019 Roifman Chitayat syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3701683012 Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3701684018 Combined immunodeficiency with faciooculoskeletal anomalies syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Is a	Combined immunodeficiency disease	true	Inferred relationship	Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Is a	Congenital atrophy of optic nerve	true	Inferred relationship	Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Is a	Hereditary disorder of the visual system	false	Inferred relationship	Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	2
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Is a	Hereditary disorder of immune system	true	Inferred relationship	Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	3
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Associated morphology	Atrophy	true	Inferred relationship	Existential restriction modifier	1
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Finding site	Optic nerve structure	true	Inferred relationship	Existential restriction modifier	1
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Is a	Congenital anomaly of optic nerve	true	Inferred relationship	Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Existential restriction modifier	4
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Is a	Inherited optic neuropathy	true	Inferred relationship	Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome	Is a	Developmental hereditary disorder	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
3701682019	Roifman Chitayat syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3701683012	Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3701684018	Combined immunodeficiency with faciooculoskeletal anomalies syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module