783159001: Holzgreve syndrome (disorder)

\Absent kidney\Renal agenesis\Holzgreve syndrome (disorder)
\Absent kidney\Potter's facies\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

12762141000172111 syndrome de Holzgreve-Wagner-Rehder fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

12762151000172113 syndrome de fente palatine, séquence de Potter, cardiopathie et polydactylie mésoaxiale fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

12762161000172110 syndrome de Holzgreve fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4103231000172116 Holzgreve-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4103241000172111 syndroom van Holzgreve nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4103251000172113 syndroom van palatoschisis, Potter-sequentie, congenitale hartafwijking, mesoaxiale polydactylie en multipele malformaties nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

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

Characteristic

Refinability

Reference Sets

Belgian subset for neonatology in patient health records

Back to Start

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
12762141000172111	syndrome de Holzgreve-Wagner-Rehder	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
12762151000172113	syndrome de fente palatine, séquence de Potter, cardiopathie et polydactylie mésoaxiale	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
12762161000172110	syndrome de Holzgreve	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4103231000172116	Holzgreve-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4103241000172111	syndroom van Holzgreve	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4103251000172113	syndroom van palatoschisis, Potter-sequentie, congenitale hartafwijking, mesoaxiale polydactylie en multipele malformaties	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)