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783159001: Holzgreve syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3757882017 Holzgreve Wagner Rehder syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757883010 Cleft palate, Potter sequence, congenital heart anomalies, mesoaxial polydactyly, multiple malformations syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757884016 Holzgreve syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757885015 Holzgreve syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757886019 An extremely rare lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988. 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
Holzgreve syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Holzgreve syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Holzgreve syndrome (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Holzgreve syndrome (disorder) Is a Cleft palate with cleft lip true Inferred relationship Some
Holzgreve syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Holzgreve syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Holzgreve syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Holzgreve syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Holzgreve syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Holzgreve syndrome (disorder) Is a Renal agenesis true Inferred relationship Some
Holzgreve syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Holzgreve syndrome (disorder) Is a Potter's facies true Inferred relationship Some
Holzgreve syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Holzgreve syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Holzgreve syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Holzgreve syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Holzgreve syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Holzgreve syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Holzgreve syndrome (disorder) Is a Congenital anomaly of face bones true Inferred relationship Some
Holzgreve syndrome (disorder) Finding site Bone structure of face true Inferred relationship Some 3
Holzgreve syndrome (disorder) Finding site Palatal structure true Inferred relationship Some 2
Holzgreve syndrome (disorder) Finding site Lip structure true Inferred relationship Some 1
Holzgreve syndrome (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Some 4
Holzgreve syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Holzgreve syndrome (disorder) Finding site Entire kidney true Inferred relationship Some 4
Holzgreve syndrome (disorder) Due to Oligohydramnios true Inferred relationship Some 5
Holzgreve syndrome (disorder) Finding site Bone structure of head false Inferred relationship Some 6
Holzgreve syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Holzgreve syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 6
Holzgreve syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 6
Holzgreve syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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