1172692006: X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Contracture scar\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Deformity\Joint deformity\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Deformity\Contracture of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Scar of skin\Keloid scar\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Scar of skin\Keloid scar\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome

\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Finding of movement\Movement disorder\Contracture of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Scar of skin\Keloid scar\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Scar of skin\Keloid scar\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Scar of skin\Keloid scar\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome

\Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome

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

\Hereditary disorder of the visual system\Inherited optic neuropathy\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome

\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Scar of skin\Keloid scar\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Scar of skin\Keloid scar\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome

\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Musculoskeletal finding\Joint finding\Joint deformity\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Lesion of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of joint region\Contracture of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Scar of skin\Keloid scar\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Scar of skin\Keloid scar\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited optic neuropathy\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio 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\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Lesion of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Scar\Contracture scar\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Scar\Scar of skin\Keloid scar\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Movement disorder\Contracture of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Scar of skin\Keloid scar\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Scar of skin\Keloid scar\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4635394019 X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

4635395018 X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Is a	X-linked hereditary disease	true	Inferred relationship	Existential restriction modifier
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Is a	Joint deformity	true	Inferred relationship	Existential restriction modifier
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Is a	Lesion of joint	true	Inferred relationship	Existential restriction modifier
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Is a	Inherited optic neuropathy	true	Inferred relationship	Existential restriction modifier
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Is a	Keloid scar	true	Inferred relationship	Existential restriction modifier
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Is a	Contracture scar	true	Inferred relationship	Existential restriction modifier
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Is a	Longitudinal deficiency of part of limb	true	Inferred relationship	Existential restriction modifier
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Is a	Contracture of joint	true	Inferred relationship	Existential restriction modifier
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Is a	Congenital abnormal shape of digit	true	Inferred relationship	Existential restriction modifier
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Is a	Congenital anomaly of joint	true	Inferred relationship	Existential restriction modifier
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Finding site	Optic nerve structure	true	Inferred relationship	Existential restriction modifier	5
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Interprets	Range of joint movement	true	Inferred relationship	Existential restriction modifier	4
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	4
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Finding site	Structure of distal interphalangeal joint	true	Inferred relationship	Existential restriction modifier	2
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier	2
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	1
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Associated morphology	Scar	true	Inferred relationship	Existential restriction modifier	1
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	3
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Associated morphology	Keloid	true	Inferred relationship	Existential restriction modifier	3
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Interprets	Optic cup/disc ratio	true	Inferred relationship	Existential restriction modifier	6
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Has interpretation	Increased	true	Inferred relationship	Existential restriction modifier	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4635394019	X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4635395018	X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module