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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Contracture scar (disorder)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Deformity (finding)\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Deformity (finding)\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Deformity (finding)\Joint deformity\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Deformity (finding)\Contracture of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Skin AND/OR mucosa finding (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 (finding)\Skin finding\Disorder of skin (disorder)\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 (finding)\Longitudinal deficiency of part of limb (disorder)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\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 limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Finding of movement (finding)\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 (finding)\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 (disorder)\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\Lesion of soft tissue (disorder)\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)\Disorder of skin (disorder)\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)\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 (disorder)\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)\Disorder of skin (disorder)\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 (disorder)\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 (disorder)\Lesion of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\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 (disorder)\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 (disorder)\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 deformity of musculoskeletal system (disorder)\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 (disorder)\Lesion of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\Disorder of joint region\Arthropathy (disorder)\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 (disorder)\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\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 (disorder)\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)\Disorder of skin (disorder)\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 (disorder)\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 (disorder)\Neuropathy (disorder)\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 (disorder)\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)\Disorder of the central nervous 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 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 (disorder)\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 (disorder)\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 deformity of musculoskeletal system (disorder)\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 (disorder)\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 limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\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\Lesion of soft tissue (disorder)\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)\Disorder of skin (disorder)\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\Congenital deformity of musculoskeletal system (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 (disorder)\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 deformity of musculoskeletal system (disorder)\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 (disorder)\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 (disorder)\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 (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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 (core metadata concept)	SNOMED CT core
5399392011	A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399393018	A rare genetic disease characterised by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Reference Sets

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

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