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

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
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
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
3413111001000119 X-chromosomale keloide Vernarbung-verminderte Gelenkmobilität-erhöhte Papillenexkavation-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3413111001000119 X-chromosomale keloide Vernarbung-verminderte Gelenkmobilität-erhöhte Papillenexkavation-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

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 (core metadata concept)
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a Joint deformity true Inferred relationship Existential restriction modifier (core metadata concept)
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 (core metadata concept)
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a Inherited optic neuropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a Keloid scar true Inferred relationship Existential restriction modifier (core metadata concept)
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 (core metadata concept)
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
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 (core metadata concept)
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a Contracture scar (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a Longitudinal deficiency of part of limb (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
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 (core metadata concept)
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 (core metadata concept)
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 (core metadata concept)
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 (core metadata concept) 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 (core metadata concept) 4
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Finding site Structure of distal interphalangeal joint (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Associated morphology Contracture true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 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 (core metadata concept) 1
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Associated morphology Scar (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 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 (core metadata concept) 3
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Associated morphology Keloid (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 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 (core metadata concept) 6
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Has interpretation Increased true Inferred relationship Existential restriction modifier (core metadata concept) 6
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a Congenital deformity of musculoskeletal system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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