722231005: Perlman syndrome (disorder)

\Renal mass\Perlman syndrome (disorder)

Descriptions:

Id Description Lang Type Status Case? Module

3331272016 Perlman syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3331273014 Perlman syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3331274015 Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. The facial dysmorphism is considered as characteristic with upsweeping anterior scalp hair, a depressed nasal bridge, hypotonic appearance with an open mouth, a prominent everted upper lip and mild micrognathia. Hyperinsulinism appears to be an important feature of this disease and may be a preventable cause of death. The syndrome appears to be inherited in an autosomal recessive manner. There is evidence the syndrome is caused by homozygous or compound heterozygous mutation in the DIS3L2 gene on chromosome 2q37. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3331275019 Perlman syndrome is characterised principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. The facial dysmorphism is considered as characteristic with upsweeping anterior scalp hair, a depressed nasal bridge, hypotonic appearance with an open mouth, a prominent everted upper lip and mild micrognathia. Hyperinsulinism appears to be an important feature of this disease and may be a preventable cause of death. The syndrome appears to be inherited in an autosomal recessive manner. There is evidence the syndrome is caused by homozygous or compound heterozygous mutation in the DIS3L2 gene on chromosome 2q37. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

949121000172114 syndrome de Perlman fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

9922381000172111 syndrome de néphroblastomatose, ascite fœtale, macrosome-tumeur de Wilms fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

877621000172117 syndroom van Perlman nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

910371000172110 nefroblastomatose, foetale ascites, macrosomie, Wilmstumor nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

988261000172113 Perlman-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Perlman syndrome (disorder)	Is a	Congenital anomaly of the kidney	false	Inferred relationship	Some
Perlman syndrome (disorder)	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Some
Perlman syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Perlman syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Perlman syndrome (disorder)	Is a	Renal mass	true	Inferred relationship	Some
Perlman syndrome (disorder)	Is a	Congenital hamartoma (disorder)	true	Inferred relationship	Some
Perlman syndrome (disorder)	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Perlman syndrome (disorder)	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Perlman syndrome (disorder)	Associated morphology	Hamartoma	true	Inferred relationship	Some	2
Perlman syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Perlman syndrome (disorder)	Finding site	Kidney structure	true	Inferred relationship	Some	2
Perlman syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Perlman syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Perlman syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	2
Perlman syndrome (disorder)	Associated morphology	Hamartoma	false	Inferred relationship	Some	3
Perlman syndrome (disorder)	Finding site	Kidney structure	false	Inferred relationship	Some	3
Perlman syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Perlman syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Perlman syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Perlman syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Perlman syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Perlman syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Perlman syndrome (disorder)	Is a	Kidney lesion	true	Inferred relationship	Some

Inbound Relationships

Characteristic

Refinability

Reference Sets

Id	Description	Lang	Type	Status	Case?	Module
3331272016	Perlman syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331273014	Perlman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331274015	Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. The facial dysmorphism is considered as characteristic with upsweeping anterior scalp hair, a depressed nasal bridge, hypotonic appearance with an open mouth, a prominent everted upper lip and mild micrognathia. Hyperinsulinism appears to be an important feature of this disease and may be a preventable cause of death. The syndrome appears to be inherited in an autosomal recessive manner. There is evidence the syndrome is caused by homozygous or compound heterozygous mutation in the DIS3L2 gene on chromosome 2q37.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331275019	Perlman syndrome is characterised principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. The facial dysmorphism is considered as characteristic with upsweeping anterior scalp hair, a depressed nasal bridge, hypotonic appearance with an open mouth, a prominent everted upper lip and mild micrognathia. Hyperinsulinism appears to be an important feature of this disease and may be a preventable cause of death. The syndrome appears to be inherited in an autosomal recessive manner. There is evidence the syndrome is caused by homozygous or compound heterozygous mutation in the DIS3L2 gene on chromosome 2q37.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
949121000172114	syndrome de Perlman	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
9922381000172111	syndrome de néphroblastomatose, ascite fœtale, macrosome-tumeur de Wilms	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
877621000172117	syndroom van Perlman	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
910371000172110	nefroblastomatose, foetale ascites, macrosomie, Wilmstumor	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
988261000172113	Perlman-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)