716096005: Hypospadias and intellectual disability syndrome Goldblatt type (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Goldblatt Wallis syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Goldblatt Wallis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of urinary tract\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of urinary tract\Disorder of the lower urinary tract\Disorder of urethra\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Finding of urinary tract proper\Lower urinary tract finding\Urethral finding\Urethral meatus finding\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Finding of urinary tract proper\Lower urinary tract finding\Urethral finding\Disorder of urethra\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Finding of urinary tract proper\Lower urinary tract finding\Disorder of the lower urinary tract\Disorder of urethra\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Finding of urinary tract proper\Disorder of urinary tract\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Finding of urinary tract proper\Disorder of urinary tract\Disorder of the lower urinary tract\Disorder of urethra\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Goldblatt Wallis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of urinary tract\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of urinary tract\Disorder of the lower urinary tract\Disorder of urethra\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Goldblatt Wallis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of urinary tract\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of urinary tract\Disorder of the lower urinary tract\Disorder of urethra\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Goldblatt Wallis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of urinary tract\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of urinary tract\Disorder of the lower urinary tract\Disorder of urethra\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Goldblatt Wallis syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Goldblatt Wallis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Goldblatt Wallis syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Goldblatt Wallis syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Goldblatt Wallis syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Goldblatt Wallis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Goldblatt Wallis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Goldblatt Wallis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Goldblatt Wallis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Goldblatt Wallis syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Goldblatt Wallis syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of urinary tract\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of urinary tract\Disorder of the lower urinary tract\Disorder of urethra\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Goldblatt Wallis syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of urinary tract\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of urinary tract\Disorder of the lower urinary tract\Disorder of urethra\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Goldblatt Wallis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Goldblatt Wallis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Goldblatt Wallis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Goldblatt Wallis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Goldblatt Wallis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Goldblatt Wallis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Goldblatt Wallis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Goldblatt Wallis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper\Congenital anomaly of urethra\Hypospadias\Goldblatt Wallis syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3304715013 Hypospadias and intellectual disability syndrome Goldblatt type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3304716014 Hypospadias and intellectual disability syndrome Goldblatt type en Synonym Active Initial character case insensitive SNOMED CT core

3304717017 Goldblatt Wallis syndrome en Synonym Active Case sensitive SNOMED CT core

3313022010 A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and with features of hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Goldblatt Wallis syndrome	Associated morphology	Congenital malposition	false	Inferred relationship	Some	1
Goldblatt Wallis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Goldblatt Wallis syndrome	Finding site	Structure of urethral meatus	true	Inferred relationship	Some	1
Goldblatt Wallis syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Goldblatt Wallis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Goldblatt Wallis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Goldblatt Wallis syndrome	Associated morphology	Malposition	true	Inferred relationship	Some	1
Goldblatt Wallis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Goldblatt Wallis syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Goldblatt Wallis syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Goldblatt Wallis syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Goldblatt Wallis syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Goldblatt Wallis syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Goldblatt Wallis syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Goldblatt Wallis syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Goldblatt Wallis syndrome	Is a	Hereditary disorder of the urinary system	true	Inferred relationship	Some
Goldblatt Wallis syndrome	Is a	Hypospadias	true	Inferred relationship	Some
Goldblatt Wallis syndrome	Associated morphology	Congenital malposition	false	Inferred relationship	Some	2
Goldblatt Wallis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Goldblatt Wallis syndrome	Finding site	Structure of urethral meatus	false	Inferred relationship	Some	2
Goldblatt Wallis syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Goldblatt Wallis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Goldblatt Wallis syndrome	Finding site	Face structure	false	Inferred relationship	Some	3
Goldblatt Wallis syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Goldblatt Wallis syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304715013	Hypospadias and intellectual disability syndrome Goldblatt type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3304716014	Hypospadias and intellectual disability syndrome Goldblatt type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3304717017	Goldblatt Wallis syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3313022010	A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and with features of hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails	en	Definition	Active	Case sensitive	SNOMED CT core