720851007: Chondrodysplasia with disorder of sex development syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\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 genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Chondrodysplasia with disorder of sex development syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development 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 genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Chondrodysplasia with disorder of sex development syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development 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 genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Chondrodysplasia with disorder of sex development syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development 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 genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Chondrodysplasia with disorder of sex development syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Chondrodysplasia with disorder of sex development syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Chondrodysplasia with disorder of sex development syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Chondrodysplasia with disorder of sex development syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Chondrodysplasia with disorder of sex development syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Chondrodysplasia with disorder of sex development syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Chondrodysplasia with disorder of sex development syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Chondrodysplasia with disorder of sex development syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Chondrodysplasia with disorder of sex development syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia with disorder of sex development syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Chondrodysplasia with disorder of sex development syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Chondrodysplasia with disorder of sex development syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Chondrodysplasia with disorder of sex development syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia with disorder of sex development syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Chondrodysplasia with disorder of sex development syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Chondrodysplasia with disorder of sex development syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Chondrodysplasia with disorder of sex development syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Chondrodysplasia with disorder of sex development syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Chondrodysplasia with disorder of sex development syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Chondrodysplasia with disorder of sex development syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Chondrodysplasia with disorder of sex development syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Chondrodysplasia with disorder of sex development 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 genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Chondrodysplasia with disorder of sex development syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Chondrodysplasia with disorder of sex development syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Chondrodysplasia with disorder of sex development syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Chondrodysplasia with disorder of sex development syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Chondrodysplasia with disorder of sex development 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 genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Chondrodysplasia with disorder of sex development syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Chondrodysplasia with disorder of sex development syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Chondrodysplasia with disorder of sex development syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Chondrodysplasia with disorder of sex development syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3322281019 Chondrodysplasia with disorder of sex development syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3322282014 Chondrodysplasia with disorder of sex development syndrome en Synonym Active Case insensitive SNOMED CT core

3322283016 Chondrodysplasia pseudohermaphroditism syndrome en Synonym Active Case insensitive SNOMED CT core

3322284010 Nivelon Nivelon Mabille syndrome en Synonym Active Case sensitive SNOMED CT core

3322287015 An extremely rare disorder of sex development, reported in only two siblings to date. The syndrome has clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies, dysmorphic features, muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested. en Definition Active Case sensitive SNOMED CT core

3322288013 An extremely rare disorder of sex development, reported in only two siblings to date. The syndrome has clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalised chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies, dysmorphic features, muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chondrodysplasia with disorder of sex development syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Chondrodysplasia with disorder of sex development syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Chondrodysplasia with disorder of sex development syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Chondrodysplasia with disorder of sex development syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Chondrodysplasia with disorder of sex development syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Chondrodysplasia with disorder of sex development syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Chondrodysplasia with disorder of sex development syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Chondrodysplasia with disorder of sex development syndrome	Finding site	Gonadal structure	true	Inferred relationship	Some	2
Chondrodysplasia with disorder of sex development syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Chondrodysplasia with disorder of sex development syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Chondrodysplasia with disorder of sex development syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Chondrodysplasia with disorder of sex development syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Chondrodysplasia with disorder of sex development syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Chondrodysplasia with disorder of sex development syndrome	Is a	Pure gonadal dysgenesis 46,XY	true	Inferred relationship	Some
Chondrodysplasia with disorder of sex development syndrome	Is a	Chondrodysplasia	true	Inferred relationship	Some
Chondrodysplasia with disorder of sex development syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Chondrodysplasia with disorder of sex development syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Chondrodysplasia with disorder of sex development syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Chondrodysplasia with disorder of sex development syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Chondrodysplasia with disorder of sex development syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Chondrodysplasia with disorder of sex development syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Chondrodysplasia with disorder of sex development syndrome	Finding site	Gonadal structure	false	Inferred relationship	Some	3
Chondrodysplasia with disorder of sex development syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Chondrodysplasia with disorder of sex development syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Chondrodysplasia with disorder of sex development syndrome	Finding site	Bone structure	false	Inferred relationship	Some	4

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3322281019	Chondrodysplasia with disorder of sex development syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3322282014	Chondrodysplasia with disorder of sex development syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322283016	Chondrodysplasia pseudohermaphroditism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322284010	Nivelon Nivelon Mabille syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3322287015	An extremely rare disorder of sex development, reported in only two siblings to date. The syndrome has clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies, dysmorphic features, muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.	en	Definition	Active	Case sensitive	SNOMED CT core
3322288013	An extremely rare disorder of sex development, reported in only two siblings to date. The syndrome has clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalised chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies, dysmorphic features, muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.	en	Definition	Active	Case sensitive	SNOMED CT core