Code System Concept

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Code System Concept

Code System Concept Code	771149000
Code System Concept Name	Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
Code System Preferred Concept Name	Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2019
SDO Date Created	01/31/2019
SDO Date Revised	01/31/2019
Description	A rare syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3704579019	Hepatic fibrosis, renal cyst, intellectual disability syndrome	Active	Synonym	false	false
3704580016	Thompson Baraitser syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Congenital anomaly of liver (disorder) {89166001 , SNOMED-CT } Congenital anomaly of the kidney (disorder) {44513007 , SNOMED-CT } Congenital cystic kidney disease (disorder) {82525005 , SNOMED-CT } Congenital hepatic fibrosis (disorder) {79607001 , SNOMED-CT } Congenital renal cyst (disorder) {369071000119105 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Multiple malformation syndrome with facial defects as major feature (disorder) {65094009 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,