FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

723451000: Pili torti onychodysplasia syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3424673010 Pili torti onychodysplasia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3424674016 Pili torti onychodysplasia syndrome en Synonym Active Case insensitive SNOMED CT core
3424675015 A form of ectodermal dysplasia with characteristics of dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pili torti onychodysplasia syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Pili torti onychodysplasia syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Pili torti onychodysplasia syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 2
Pili torti onychodysplasia syndrome Occurrence Congenital true Inferred relationship Some 1
Pili torti onychodysplasia syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Pili torti onychodysplasia syndrome Occurrence Congenital true Inferred relationship Some 3
Pili torti onychodysplasia syndrome Finding site Ectoderm structure true Inferred relationship Some 3
Pili torti onychodysplasia syndrome Finding site Hair structure false Inferred relationship Some 2
Pili torti onychodysplasia syndrome Occurrence Congenital true Inferred relationship Some 2
Pili torti onychodysplasia syndrome Pathological process Pathological developmental process false Inferred relationship Some 4
Pili torti onychodysplasia syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 1
Pili torti onychodysplasia syndrome Finding site Hair structure true Inferred relationship Some 1
Pili torti onychodysplasia syndrome Finding site Skin structure false Inferred relationship Some 3
Pili torti onychodysplasia syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 3
Pili torti onychodysplasia syndrome Is a Disorder of hair growth true Inferred relationship Some
Pili torti onychodysplasia syndrome Finding site Nail unit structure false Inferred relationship Some 1
Pili torti onychodysplasia syndrome Associated morphology Dysplasia true Inferred relationship Some 2
Pili torti onychodysplasia syndrome Associated morphology Dysplasia true Inferred relationship Some 1
Pili torti onychodysplasia syndrome Associated morphology Dysplasia true Inferred relationship Some 3
Pili torti onychodysplasia syndrome Is a Skin lesion true Inferred relationship Some
Pili torti onychodysplasia syndrome Is a Genetic disorder of nail true Inferred relationship Some
Pili torti onychodysplasia syndrome Finding site Nail unit structure true Inferred relationship Some 2
Pili torti onychodysplasia syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Pili torti onychodysplasia syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Pili torti onychodysplasia syndrome Is a Ectodermal dysplasia with hair-nail defect true Inferred relationship Some
Pili torti onychodysplasia syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Pili torti onychodysplasia syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 4
Pili torti onychodysplasia syndrome Occurrence Congenital false Inferred relationship Some 4
Pili torti onychodysplasia syndrome Occurrence Congenital false Inferred relationship Some 5
Pili torti onychodysplasia syndrome Occurrence Congenital false Inferred relationship Some 6
Pili torti onychodysplasia syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 7
Pili torti onychodysplasia syndrome Occurrence Congenital false Inferred relationship Some 7
Pili torti onychodysplasia syndrome Finding site Ectoderm structure false Inferred relationship Some 4
Pili torti onychodysplasia syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 5
Pili torti onychodysplasia syndrome Finding site Hair structure false Inferred relationship Some 5
Pili torti onychodysplasia syndrome Associated morphology Developmental abnormality false Inferred relationship Some 6
Pili torti onychodysplasia syndrome Finding site Skin structure false Inferred relationship Some 6
Pili torti onychodysplasia syndrome Finding site Nail structure false Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start