702410002: Iris coloboma with ptosis, hypertelorism, and mental retardation (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2994992011 Cerebro-frontofacial syndrome, type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995020018 Fryns-Aftimos syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995240015 Baraitser-Winter syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995644015 Iris coloboma with ptosis, hypertelorism, and mental retardation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995891012 Iris coloboma with ptosis, hypertelorism, and mental retardation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4597621000172119 syndroom van Baraitser-Winter nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4597631000172116 Baraitser-Winter-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Baraitser-Winter-syndroom	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Baraitser-Winter-syndroom	Is a	Multisystem disorder	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

Description inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)