FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

1340173008: EN1-related dorsoventral syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5373319018 ENDOVE syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5373320012 EN1-related dorsoventral syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5373321011 EN1-related dorsoventral syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5373322016 ENDOVES - EN1-related dorsoventral syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5373323014 A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. 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
EN1-related dorsoventral syndrome Is a Mesomelic dysplasia of lower limb true Inferred relationship Some
EN1-related dorsoventral syndrome Is a Congenital anomaly of nail true Inferred relationship Some
EN1-related dorsoventral syndrome Is a Syndactyly (disorder) true Inferred relationship Some
EN1-related dorsoventral syndrome Is a Genetic disorder of nail (disorder) true Inferred relationship Some
EN1-related dorsoventral syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
EN1-related dorsoventral syndrome Interprets Tibia length (observable entity) true Inferred relationship Some 5
EN1-related dorsoventral syndrome Has interpretation Below reference range true Inferred relationship Some 5
EN1-related dorsoventral syndrome Interprets Length of fibula true Inferred relationship Some 6
EN1-related dorsoventral syndrome Has interpretation Below reference range true Inferred relationship Some 6
EN1-related dorsoventral syndrome Occurrence Congenital true Inferred relationship Some 1
EN1-related dorsoventral syndrome Finding site Digit structure true Inferred relationship Some 1
EN1-related dorsoventral syndrome Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 1
EN1-related dorsoventral syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
EN1-related dorsoventral syndrome Occurrence Congenital true Inferred relationship Some 2
EN1-related dorsoventral syndrome Finding site Bone structure of tibia true Inferred relationship Some 2
EN1-related dorsoventral syndrome Associated morphology Dysplasia true Inferred relationship Some 2
EN1-related dorsoventral syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
EN1-related dorsoventral syndrome Occurrence Congenital true Inferred relationship Some 3
EN1-related dorsoventral syndrome Finding site Bone structure of fibula true Inferred relationship Some 3
EN1-related dorsoventral syndrome Associated morphology Dysplasia true Inferred relationship Some 3
EN1-related dorsoventral syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
EN1-related dorsoventral syndrome Occurrence Congenital true Inferred relationship Some 4
EN1-related dorsoventral syndrome Finding site Nail unit structure true Inferred relationship Some 4
EN1-related dorsoventral syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
EN1-related dorsoventral syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start