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783159001: Holzgreve syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3757882017 Holzgreve Wagner Rehder syndrome en Synonym Active Case sensitive SNOMED CT core
3757883010 Cleft palate, Potter sequence, congenital heart anomalies, mesoaxial polydactyly, multiple malformations syndrome en Synonym Active Initial character case insensitive SNOMED CT core
3757884016 Holzgreve syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3757885015 Holzgreve syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Holzgreve syndrome Occurrence Congenital true Inferred relationship Some 3
Holzgreve syndrome Occurrence Congenital true Inferred relationship Some 1
Holzgreve syndrome Is a Digestive system hereditary disorder true Inferred relationship Some
Holzgreve syndrome Is a Cleft palate with cleft lip true Inferred relationship Some
Holzgreve syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 1
Holzgreve syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Holzgreve syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Holzgreve syndrome Occurrence Congenital true Inferred relationship Some 2
Holzgreve syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Holzgreve syndrome Is a Renal agenesis true Inferred relationship Some
Holzgreve syndrome Is a Hereditary nephropathy true Inferred relationship Some
Holzgreve syndrome Is a Potter's facies true Inferred relationship Some
Holzgreve syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Holzgreve syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 2
Holzgreve syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Holzgreve syndrome Occurrence Congenital true Inferred relationship Some 4
Holzgreve syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Holzgreve syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Holzgreve syndrome Is a Congenital anomaly of face bones true Inferred relationship Some
Holzgreve syndrome Finding site Bone structure of face true Inferred relationship Some 3
Holzgreve syndrome Finding site Palatal structure true Inferred relationship Some 2
Holzgreve syndrome Finding site Lip structure true Inferred relationship Some 1
Holzgreve syndrome Associated morphology Agenesis true Inferred relationship Some 4
Holzgreve syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Holzgreve syndrome Finding site Entire kidney true Inferred relationship Some 4
Holzgreve syndrome Due to Oligohydramnios true Inferred relationship Some 5
Holzgreve syndrome Finding site Bone structure of head false Inferred relationship Some 6
Holzgreve syndrome Occurrence Congenital false Inferred relationship Some 6
Holzgreve syndrome Pathological process Pathological developmental process false Inferred relationship Some 6
Holzgreve syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 6
Holzgreve syndrome Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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