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63844009: Oculocutaneous albinism (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
106102018 Oculocutaneous albinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
106104017 Complete perfect albinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
106105016 Albinismus totalis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
106106015 Albinismus universalis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
106107012 Total albinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
106108019 Complete universal albinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1232507012 OCA - Oculocutaneous albinism en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
451691000241111 albinisme oculo-cutané (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
803172015 Oculocutaneous albinism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
899851000172110 albinisme oculo-cutané fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
947621000172111 AOC - albinisme oculo-cutané fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)


17 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Oculocutaneous albinism Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Oculocutaneous albinism Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Oculocutaneous albinism localisation d'une constatation (attribut) Structure of eye proper (body structure) true Inferred relationship Some 2
Oculocutaneous albinism morphologie associée (attribut) Hypopigmentation false Inferred relationship Some 2
Oculocutaneous albinism morphologie associée (attribut) Hypopigmentation false Inferred relationship Some 1
Oculocutaneous albinism est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Oculocutaneous albinism est un(e) (attribut) Autosomal recessive ocular albinism false Inferred relationship Some
Oculocutaneous albinism est un(e) (attribut) Congenital anomaly of eye false Inferred relationship Some
Oculocutaneous albinism morphologie associée (attribut) Congenital hypopigmentation false Inferred relationship Some 1
Oculocutaneous albinism est un(e) (attribut) Albinism true Inferred relationship Some
Oculocutaneous albinism est un(e) (attribut) Congenital deficiency of pigment of skin false Inferred relationship Some
Oculocutaneous albinism est un(e) (attribut) Congenital anomaly of eye false Inferred relationship Some
Oculocutaneous albinism est un(e) (attribut) Hereditary disorder of the integument false Inferred relationship Some
Oculocutaneous albinism est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Oculocutaneous albinism localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 1
Oculocutaneous albinism morphologie associée (attribut) Decreased melanin pigmentation false Inferred relationship Some 1
Oculocutaneous albinism localisation d'une constatation (attribut) Structure of eye proper (body structure) false Inferred relationship Some 1
Oculocutaneous albinism localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 1
Oculocutaneous albinism morphologie associée (attribut) Congenital hypopigmentation false Inferred relationship Some 1
Oculocutaneous albinism morphologie associée (attribut) Decreased melanin pigmentation true Inferred relationship Some 1
Oculocutaneous albinism survenue (attribut) congénital true Inferred relationship Some 2
Oculocutaneous albinism est un(e) (attribut) Disorder of eye proper (disorder) false Inferred relationship Some
Oculocutaneous albinism morphologie associée (attribut) Congenital hypopigmentation false Inferred relationship Some 2
Oculocutaneous albinism localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 2
Oculocutaneous albinism survenue (attribut) congénital false Inferred relationship Some 3
Oculocutaneous albinism morphologie associée (attribut) Decreased melanin pigmentation false Inferred relationship Some 3
Oculocutaneous albinism morphologie associée (attribut) Decreased melanin pigmentation true Inferred relationship Some 2
Oculocutaneous albinism est un(e) (attribut) Lesion of eye structure false Inferred relationship Some
Oculocutaneous albinism est un(e) (attribut) Anomaly of eye (disorder) false Inferred relationship Some
Oculocutaneous albinism est un(e) (attribut) Genetic disorder of skin pigmentation (disorder) true Inferred relationship Some
Oculocutaneous albinism morphologie associée (attribut) Congenital hypopigmentation false Inferred relationship Some 1
Oculocutaneous albinism localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 3
Oculocutaneous albinism localisation d'une constatation (attribut) Structure of skin region false Inferred relationship Some 1
Oculocutaneous albinism survenue (attribut) congénital false Inferred relationship Some
Oculocutaneous albinism morphologie associée (attribut) Congenital deficiency false Inferred relationship Some
Oculocutaneous albinism localisation d'une constatation (attribut) Structure of eye proper (body structure) false Inferred relationship Some 1
Oculocutaneous albinism est un(e) (attribut) Congenital oculocutaneous hypopigmentation true Inferred relationship Some
Oculocutaneous albinism survenue (attribut) congénital true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Cross syndrome est un(e) (attribut) True Oculocutaneous albinism Inferred relationship Some
albinisme oculo-cutané type 2 (trouble) est un(e) (attribut) True Oculocutaneous albinism Inferred relationship Some
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type est un(e) (attribut) True Oculocutaneous albinism Inferred relationship Some
Tyrosinase-negative oculocutaneous albinism est un(e) (attribut) True Oculocutaneous albinism Inferred relationship Some
Autosomal dominant oculocutaneous albinism est un(e) (attribut) False Oculocutaneous albinism Inferred relationship Some
Oculocutaneous albinism type 4 (disorder) est un(e) (attribut) True Oculocutaneous albinism Inferred relationship Some
Microcephalus with albinism and digital anomaly syndrome (disorder) est un(e) (attribut) True Oculocutaneous albinism Inferred relationship Some
Oculocutaneous albinism type 5 (disorder) est un(e) (attribut) True Oculocutaneous albinism Inferred relationship Some
Oculocutaneous albinism type 6 (disorder) est un(e) (attribut) True Oculocutaneous albinism Inferred relationship Some
Oculocutaneous albinism type 7 (disorder) est un(e) (attribut) True Oculocutaneous albinism Inferred relationship Some
Oculocutaneous albinism type 1 (disorder) est un(e) (attribut) True Oculocutaneous albinism Inferred relationship Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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