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

• SNOMED CT Concept\constatation clinique\...
• \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)\anomalie morphologique congénitale\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)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Scar of skin\cicatrice chéloïde (trouble)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Scar of skin\cicatrice chéloïde (trouble)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \constatation à propos de la structure d'un membre\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
• \constatation à propos de la structure d'un membre\affection d'une extrémité\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
• \constatation à propos de la structure d'un membre\affection d'une extrémité\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
• \constatation à propos de la structure d'un membre\affection d'une extrémité\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
• \constatation à propos du mouvement\constatation à propos du mouvement de l'articulation\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
• \constatation à propos du mouvement\Movement disorder\Contracture of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Scar of skin\cicatrice chéloïde (trouble)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Scar of skin\cicatrice chéloïde (trouble)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Scar of skin\cicatrice chéloïde (trouble)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \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)\Disorder of optic nerve\Inherited optic neuropathy\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Scar of skin\cicatrice chéloïde (trouble)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Scar of skin\cicatrice chéloïde (trouble)\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\Lesion 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\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\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\maladie du système musculosquelettique (trouble)\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)\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\maladie héréditaire\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\maladie héréditaire\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\maladie héréditaire\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\maladie héréditaire\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\maladie héréditaire\Developmental hereditary disorder\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\affection d'un système corporel\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\affection d'un système corporel\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\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Scar of skin\cicatrice chéloïde (trouble)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\affection d'un système corporel\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\affection d'un système corporel\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\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\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\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\cicatrice\Contracture scar (disorder)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\cicatrice\Scar of skin\cicatrice chéloïde (trouble)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\affection d'une extrémité\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\affection d'une extrémité\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\affection d'une extrémité\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\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\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 (disorder)\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 (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\lésion de tissu mou\Skin lesion\Scar of skin\cicatrice chéloïde (trouble)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Scar of skin\cicatrice chéloïde (trouble)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
• \Disease\trouble du développement\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\trouble du développement\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\trouble du développement\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
4635393013	A rare genetic disease with characteristics of 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, facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, high arched palate). Female carriers exhibit a variable milder phenotype.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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