Code System Concept

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Code System Concept

Code System Concept Code	720603002
Code System Concept Name	Camptodactyly syndrome Guadalajara type 2 (disorder)
Code System Preferred Concept Name	Camptodactyly syndrome Guadalajara type 2 (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Superseded By Concept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	01/31/2017
SDO Date Created	01/31/2017
SDO Date Revised	01/31/2017
Description	An extremely rare multiple congenital anomaly syndrome with characteristics of distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Described in two sisters there have been no further descriptions in the literature since 1985.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3321508012	Camptodactyly syndrome Guadalajara type 2	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Camptodactyly (disorder) {29271008 , SNOMED-CT } Camptodactyly of finger (disorder) {1162716000 , SNOMED-CT } Congenital abnormal shape of digit (disorder) {92907008 , SNOMED-CT } Congenital anomaly of finger (disorder) {20948006 , SNOMED-CT } Congenital anomaly of skeletal bone (disorder) {8447006 , SNOMED-CT } Congenital deformity (disorder) {276655000 , SNOMED-CT } Congenital skeletal dysplasia (disorder) {105986008 , SNOMED-CT } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Finding of musculoskeletal structure of digit of hand (finding) {299055007 , SNOMED-CT } Flexion deformity of hand (finding) {309463003 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Multiple malformation syndrome with limb defect as major feature (disorder) {41443008 , 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,