FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

763404001: Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3639338017 Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3639339013 Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3640466015 Jagell, Holmgren, Hofer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3640801016 An ectodermal dysplasia syndrome characterised by severe generalised lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3640802011 An ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Is a Congenital alopecia true Inferred relationship Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Is a Ectodermal dysplasia true Inferred relationship Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Is a Lamellar ichthyosis true Inferred relationship Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Occurrence Infancy false Inferred relationship Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Occurrence Fetal or neonatal period false Inferred relationship Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Is a Intellectual disability true Inferred relationship Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Finding site Skin structure false Inferred relationship Some 3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Occurrence Congenital true Inferred relationship Some 2
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Occurrence Congenital false Inferred relationship Some 4
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Occurrence Congenital true Inferred relationship Some 3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Finding site Skin structure false Inferred relationship Some 4
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Occurrence Congenital true Inferred relationship Some 1
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Finding site Hair structure (body structure) true Inferred relationship Some 1
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Finding site Skin structure false Inferred relationship Some 2
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Associated morphology Hyperkeratosis false Inferred relationship Some 4
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Finding site Ectoderm structure true Inferred relationship Some 2
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Associated morphology kongenit dysplasi false Inferred relationship Some 2
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Finding site Ectoderm structure false Inferred relationship Some 3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Associated morphology kongenit dysplasi false Inferred relationship Some 3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Associated morphology dysgenese false Inferred relationship Some 2
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Associated morphology Proliferative hyperkeratosis true Inferred relationship Some 3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Associated morphology Dysplasia true Inferred relationship Some 2
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Is a Autosomal recessive ichthyosis (disorder) true Inferred relationship Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Has interpretation Abnormal true Inferred relationship Some 4
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Interprets Keratinization true Inferred relationship Some 4
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Finding site Entire skin true Inferred relationship Some 3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Some 5
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Has interpretation Impaired true Inferred relationship Some 5
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Interprets Adaptation behavior (observable entity) true Inferred relationship Some 6
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Has interpretation Impaired true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start