FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
803172015 Oculocutaneous albinism (disorder) en Fully specified name 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
899851000172110 albinisme oculo-cutané fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
947621000172111 AOC - albinisme oculo-cutané fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
646351000274116 OCA - Okulokutaner Albinismus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
646361000274118 Okulokutaner Albinismus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


19 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Oculocutaneous albinism Is a Albinism true Inferred relationship Some
Oculocutaneous albinism Associated morphology Congenital hypopigmentation false Inferred relationship Some 1
Oculocutaneous albinism Finding site Skin structure false Inferred relationship Some 3
Oculocutaneous albinism Finding site Structure of skin region false Inferred relationship Some 1
Oculocutaneous albinism Occurrence Congenital false Inferred relationship Some
Oculocutaneous albinism Associated morphology Congenital deficiency false Inferred relationship Some
Oculocutaneous albinism Finding site Eye structure false Inferred relationship Some 1
Oculocutaneous albinism Is a Congenital anomaly of eye false Inferred relationship Some
Oculocutaneous albinism Associated morphology Congenital hypopigmentation false Inferred relationship Some 1
Oculocutaneous albinism Is a Congenital deficiency of pigment of skin false Inferred relationship Some
Oculocutaneous albinism Is a Congenital anomaly of eye false Inferred relationship Some
Oculocutaneous albinism Is a Hereditary disorder of the integument true Inferred relationship Some
Oculocutaneous albinism Is a Hereditary disorder of the visual system true Inferred relationship Some
Oculocutaneous albinism Finding site Skin structure false Inferred relationship Some 1
Oculocutaneous albinism Associated morphology Decreased melanin pigmentation false Inferred relationship Some 1
Oculocutaneous albinism Finding site Eye structure false Inferred relationship Some 1
Oculocutaneous albinism Finding site Skin structure true Inferred relationship Some 1
Oculocutaneous albinism Associated morphology Congenital hypopigmentation false Inferred relationship Some 1
Oculocutaneous albinism Associated morphology Decreased melanin pigmentation true Inferred relationship Some 1
Oculocutaneous albinism Occurrence Congenital true Inferred relationship Some 2
Oculocutaneous albinism Is a Disorder of eye proper (disorder) false Inferred relationship Some
Oculocutaneous albinism Associated morphology Congenital hypopigmentation false Inferred relationship Some 2
Oculocutaneous albinism Finding site Skin structure false Inferred relationship Some 2
Oculocutaneous albinism Occurrence Congenital false Inferred relationship Some 3
Oculocutaneous albinism Associated morphology Decreased melanin pigmentation false Inferred relationship Some 3
Oculocutaneous albinism Associated morphology Decreased melanin pigmentation true Inferred relationship Some 2
Oculocutaneous albinism Is a Lesion of eye (disorder) false Inferred relationship Some
Oculocutaneous albinism Is a Anomaly of eye (disorder) false Inferred relationship Some
Oculocutaneous albinism Is a Genetic disorder of skin pigmentation (disorder) true Inferred relationship Some
Oculocutaneous albinism Is a Congenital oculocutaneous hypopigmentation true Inferred relationship Some
Oculocutaneous albinism Occurrence Congenital true Inferred relationship Some 1
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 Finding site Eye structure true Inferred relationship Some 2
Oculocutaneous albinism Associated morphology Hypopigmentation false Inferred relationship Some 2
Oculocutaneous albinism Associated morphology Hypopigmentation false Inferred relationship Some 1
Oculocutaneous albinism Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Oculocutaneous albinism Is a Autosomal recessive ocular albinism false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Is a True Oculocutaneous albinism Inferred relationship Some
Tyrosinase-positive oculocutaneous albinism Is a True Oculocutaneous albinism Inferred relationship Some
Tyrosinase-negative oculocutaneous albinism Is a True Oculocutaneous albinism Inferred relationship Some
Autosomal dominant oculocutaneous albinism Is a False Oculocutaneous albinism Inferred relationship Some
A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. Is a True Oculocutaneous albinism Inferred relationship Some
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Is a True Oculocutaneous albinism Inferred relationship Some
A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected. Is a True Oculocutaneous albinism Inferred relationship Some
A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. Is a True Oculocutaneous albinism Inferred relationship Some
A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Is a True Oculocutaneous albinism Inferred relationship Some
A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigmentation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). Is a True Oculocutaneous albinism Inferred relationship Some
Cross syndrome Is a True Oculocutaneous albinism Inferred relationship Some
Oculocutaneous albinism type 8 (disorder) Is a True Oculocutaneous albinism Inferred relationship Some
A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. Is a True Oculocutaneous albinism Inferred relationship Some

This concept is not in any reference sets

Back to Start