770625006: Combined immunodeficiency with faciooculoskeletal anomalies 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\Combined immunodeficiency with faciooculoskeletal anomalies 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\Combined immunodeficiency with faciooculoskeletal anomalies 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\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\...
• \Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Optic atrophy\Congenital atrophy of optic nerve (disorder)\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Congenital anomaly of visual system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Optic atrophy\Congenital atrophy of optic nerve (disorder)\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \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 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital atrophy of optic nerve (disorder)\Combined immunodeficiency with faciooculoskeletal anomalies 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\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies 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 optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Combined immunodeficiency with faciooculoskeletal anomalies 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\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Degenerative disorder\Congenital degeneration of nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \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 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \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 (disorder)
• \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 (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Combined immunodeficiency with faciooculoskeletal anomalies 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 optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Combined immunodeficiency with faciooculoskeletal anomalies 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 optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \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 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Combined immunodeficiency with faciooculoskeletal anomalies 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\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \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 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Combined immunodeficiency with faciooculoskeletal anomalies 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\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3701682019	Roifman Chitayat syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3701683012	Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701684018	Combined immunodeficiency with faciooculoskeletal anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404842015	A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404843013	A rare combined immunodeficiency disorder characterised by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral oedema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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