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722113001: Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3330754017 Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330755016 Osteoporosis and oculocutaneous hypopigmentation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330756015 Hernandez Fragoso syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330757012 Syndrome with characteristics of osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
891401000172114 OOCHS - osteoporosis, oculocutaneous hypopigmentation syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
956191000172118 syndrome d'ostéoporose-hypopigmentation oculocutanée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Is a Congenital oculocutaneous hypopigmentation true Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Is a Dysplasia with decreased bone density true Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Some 4
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Some 5
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 6
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Finding site Bone structure false Inferred relationship Some 6
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Finding site Eye structure false Inferred relationship Some 4
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Finding site Skin structure false Inferred relationship Some 5
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Is a Genetic disorder of skin pigmentation (disorder) true Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Finding site Skin structure true Inferred relationship Some 2
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Finding site Bone structure true Inferred relationship Some 3
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Finding site Eye structure true Inferred relationship Some 1
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Associated morphology Hypopigmentation true Inferred relationship Some 2
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Associated morphology Hypopigmentation true Inferred relationship Some 1
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 4
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Interprets Bone density scan true Inferred relationship Some 4
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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